Sex chromosomes abnormalities and CNVs, and their diagnosis

Numerical and cytogenetically identifiable structural abnormalities of sex chromosomes, their unbalanced microstructural rearrangements - copy number variations (CNVs) and gene variants are a common cause of disorders of sex differentiation and reproductive organs development, hypogonadism, growth abnormalities, mental retardation, defects of gametogenesis and fertility. Due to rapid development of molecular technologies of genome analysis in recent years, data on the «fine structure» of the genome and its variations, including sex chromosomes, their recombination and mutations, and numerous CNVs were obtained. The variety of gonosomal mutations, the frequent combination of changes in different levels of the genome and the presence of sex chromosome mosaicism, also as the lack of a universal approach to their diagnosis requires a comprehensive, and in many cases, an individual algorithm of medical and genetic examination of patients with abnormalities of sex development, physical and mental development, reproductive function. The article provides a brief overview of human sex chromosomes and CNVs, as well as modern possibilities of their diagnosis.

анеуплоидия, бесплодие, вариации числа копий (CNV), гаметогенез, мозаицизм, нарушение формирования пола (НФП), половые хромосомы (гоносомы), химеризм, aneuploidy, infertility, copy number variation (CNV), gametogenesis, mosaicism, disorders of sex development (DSD), sex chromosomes (gonosomes), chimerism

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